NM_005859.5(PURA):c.674C>T (p.Thr225Ile) AND PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001296177.7
Allele description [Variation Report for NM_005859.5(PURA):c.674C>T (p.Thr225Ile)]
NM_005859.5(PURA):c.674C>T (p.Thr225Ile)
Condition(s)
-
OTU domain-containing protein 7B [Mus musculus]
OTU domain-containing protein 7B [Mus musculus]gi|71043959|ref|NP_001020784.1|Protein
-
Srbd1 S1 RNA binding domain 1 [Rattus norvegicus]
Srbd1 S1 RNA binding domain 1 [Rattus norvegicus]Gene ID:301665Gene
-
Same Parent, Connectivity for PubChem Compound (Select 134338100) (2)
PubChem Compound
-
Same Parent, Connectivity for PubChem Compound (Select 193832) (50)
PubChem Compound
-
Mixture/Component Compounds for PubChem Compound (Select 193832) (258)
PubChem Compound
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024